MSSD
MCID: SYN063
MIFTS: 32

Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction (MSSD)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

MalaCards integrated aliases for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction:

Name: Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 57 72 39 70
Mssd 57 20 58 72
Mesoaxial Synostotic Syndactyly with Phalangeal Reduction 58 29 6
Syndactyly, Malik-Percin Type 57 58 72
Syndactyly, Type Ix 57 72
Syndactyly Type 9 20 58
Syndactyly Mesoaxial Synostotic with Phalangeal Reduction 20
Mesoaxial Synostotic Syndactyly, Malik-Percin Type 72
Syndactyly Malik-Percin Type 20

Characteristics:

Orphanet epidemiological data:

58
mesoaxial synostotic syndactyly with phalangeal reduction
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
feet are unaffected in some patients
some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes


HPO:

31
syndactyly, mesoaxial synostotic, with phalangeal reduction:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 609432
MeSH 44 D013576
ICD10 via Orphanet 33 Q70.0 Q70.2
UMLS via Orphanet 71 C1836206
Orphanet 58 ORPHA157801
MedGen 41 C1836206
UMLS 70 C1836206

Summaries for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 157801 Definition Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly. Epidemiology It has been described in two families. Etiology The locus for this complex limb malformation was mapped to chromosome 17p13.3. Genetic counseling The condition is transmitted as an autosomal recessive trait.

MalaCards based summary : Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction, also known as mssd, is related to polydactyly and camptosynpolydactyly, complex. An important gene associated with Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction is BHLHA9 (Basic Helix-Loop-Helix Family Member A9). Affiliated tissues include heart, cortex and prefrontal cortex, and related phenotypes are clinodactyly of the 5th finger and short thumb

OMIM® : 57 Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) represents a distinctive combination of clinical features that includes mesoaxial osseous synostosis at a metacarpal level, reduction of one or more phalanges, hypoplasia of distal phalanges of preaxial and postaxial digits, clinodactyly of fifth fingers, and preaxial fusion of toes (Malik et al., 2014). (609432) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Syndactyly, mesoaxial synostotic, with phalangeal reduction: An autosomal recessive, non-syndromic digit anomaly characterized by mesoaxial osseous synostosis at a metacarpal level, reduction of one or more phalanges, hypoplasia of distal phalanges of preaxial and postaxial digits, clinodactyly of fifth fingers, and preaxial fusion of toes.

Related Diseases for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

Diseases related to Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 polydactyly 10.4
2 camptosynpolydactyly, complex 10.4
3 chromosome 17p13.3, telomeric, duplication syndrome 10.4
4 autosomal recessive disease 10.4
5 osteochondrodysplasia 10.4
6 non-syndromic limb malformation 10.4
7 chromosome 2q35 duplication syndrome 10.2
8 helix syndrome 9.9

Graphical network of the top 20 diseases related to Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction:



Diseases related to Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

Symptoms & Phenotypes for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

Human phenotypes related to Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
2 short thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0009778
3 short hallux 58 31 hallmark (90%) Very frequent (99-80%) HP:0010109
4 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
5 symphalangism affecting the phalanges of the hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0009773
6 short palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004279
7 2-3 toe syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0004691
8 aplasia/hypoplasia of the middle phalanges of the hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0009843
9 metacarpal synostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0009701
10 synostosis of carpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0005048
11 aplasia/hypoplasia of the hallux 58 31 Very frequent (99-80%) HP:0008362
12 toe syndactyly 58 Very frequent (99-80%)
13 aplasia/hypoplasia of the thumb 31 HP:0009601
14 single transverse palmar crease 31 HP:0000954
15 3-4 finger syndactyly 31 HP:0006097
16 aplasia/hypoplasia of the middle phalanx of the 2nd finger 31 HP:0009568
17 aplasia/hypoplasia of the middle phalanx of the 5th finger 31 HP:0009161
18 proximal/middle symphalangism of 5th finger 31 HP:0009177
19 symphalangism affecting the phalanges of the hallux 31 HP:0010064

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Hands:
fifth finger clinodactyly
bilateral transverse palmar creases
four fingers on each hand
complete syndactyly/synostosis of 3rd-4th fingers
aplasia/hypoplasia of thumbs
more
Skin Nails Hair Skin:
distorted triradii of palmar skin
decreased flexion creases

Skeletal Feet:
aplasia/hypoplasia of halluces
complete or partial syndactyly
hypoplasia of distal and middle phalanges
hallucal symphalangism

Skin Nails Hair Nails:
hypoplastic nails of some affected fingers and toes

Clinical features from OMIM®:

609432 (Updated 20-May-2021)

Drugs & Therapeutics for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

Search Clinical Trials , NIH Clinical Center for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

Genetic Tests for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

Genetic tests related to Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction:

# Genetic test Affiliating Genes
1 Mesoaxial Synostotic Syndactyly with Phalangeal Reduction 29 BHLHA9

Anatomical Context for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

MalaCards organs/tissues related to Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction:

40
Heart, Cortex, Prefrontal Cortex, Pituitary, Brain, Breast

Publications for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

Articles related to Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction:

(show top 50) (show all 135)
# Title Authors PMID Year
1
Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type. 61 57 6
25466284 2014
2
A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin. 6 57
15039974 2004
3
Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: an unusual combination or homozygous expression of syndactyly type I? 57 6
9783716 1998
4
Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3. 61 57
15779011 2005
5
CHAOS Challenge - combined (CT-MR) healthy abdominal organ segmentation. 61
33421920 2021
6
Frequency-specific alternations in the moment-to-moment BOLD signals variability in schizophrenia. 61
31900893 2021
7
Greater BOLD Variability is Associated With Poorer Cognitive Function in an Adult Lifespan Sample. 61
32915200 2021
8
Heavy metals exposure, lipid peroxidation and heart rate variability alteration: Association and mediation analyses in urban adults. 61
32829210 2020
9
Evaluation of spontaneous regional brain activity in weight-recovered anorexia nervosa. 61
33177499 2020
10
Boundary Restored Network for Subpleural Pulmonary Lesion Segmentation on Ultrasound Images at Local and Global Scales. 61
32556913 2020
11
Momentary associations between positive affect dimensions and dysregulated eating during puberty in a diverse sample of youth with overweight/obesity. 61
32706499 2020
12
Autonomic modulation before and after paroxysmal atrial fibrillation events in patients with ischemic heart disease. 61
32452603 2020
13
Predicting Resilience Losses in Dyadic Team Performance. 61
32687777 2020
14
Do Feelings of Defeat and Entrapment Change over Time? An Investigation of the Integrated Motivational-Volitional Model of Suicidal Behaviour Using Ecological Momentary Assessments. 61
32610667 2020
15
First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction. 61
31912643 2020
16
Cardiovascular risk assessment by electrocardiographic Holter monitoring in patients with chronic hepatitis C. 61
32863991 2020
17
The association of trait impulsivity and suicidal ideation and its fluctuation in the context of the Interpersonal Theory of Suicide. 61
32004858 2019
18
Abnormalities of heart rate turbulence and heart rate variability as indicators of increased cardiovascular risk in patients with systemic sclerosis. 61
31997999 2019
19
Shape-appearance constrained segmentation and separation of vein and artery in pulsatile tinnitus patients based on MR angiography and flow MRI. 61
31163188 2019
20
A novel frameshift variant in BHLHA9 underlies mesoaxial synostotic syndactyly associated with postaxial polydactyly. 61
31152918 2019
21
Fabrication of Various Plasmonic Pt Nanostructures via Indium Assisted Solid-State Dewetting: From Small Nanoparticles to Widely Connected Networks. 61
31159339 2019
22
EXPAND, a dose-finding study of ruxolitinib in patients with myelofibrosis and low platelet counts: 48-week follow-up analysis. 61
30442723 2019
23
Rigidity in Motor Behavior and Brain Functioning in Patients With Schizophrenia and High Levels of Apathy. 61
30053198 2019
24
A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction. 61
30107244 2019
25
BOLD signal variability and complexity in children and adolescents with and without autism spectrum disorder. 61
30878549 2019
26
Affect Dynamics as Predictors of Symptom Severity and Treatment Response in Mood and Anxiety Disorders: Evidence for Specificity. 61
33569146 2019
27
Impact of heart rate on reproducibility of heart rate variability analysis in the supine and standing positions in healthy men. 61
31411277 2019
28
Modified Singular Spectrum Decomposition and Its Application to Composite Fault Diagnosis of Gearboxes. 61
30586921 2018
29
Enhancement of megavoltage electronic portal images for markerless tumor tracking. 61
29984883 2018
30
Therapeutic Intervention of Aloe Gel Containing Nano-Sized and Micron-Sized Silver Sulfadiazine Gel on Second-Degree Burn: A Comparative Study. 61
30111204 2018
31
Response to: "Letter to the editor: Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD): syndactyly type IX". 61
29911248 2018
32
The daily dynamics of loss orientation and life engagement in advanced cancer: A pilot study to characterise patterns of adaptation at the end of life. 61
29700876 2018
33
Heart rate variability in healthy term newborns is related to delivery mode: a prospective observational study. 61
29945544 2018
34
The use of heart rate turbulence and heart rate variability in the assessment of autonomic regulation and circadian rhythm in patients with systemic lupus erythematosus without apparent heart disease. 61
28795655 2018
35
Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD): syndactyly type IX. 61
29230504 2018
36
Resting-State Brain Signal Variability in Prefrontal Cortex Is Associated With ADHD Symptom Severity in Children. 61
29593515 2018
37
Heart rate variability as predictor of mortality in sepsis: A systematic review. 61
30204803 2018
38
Investigating the Dynamics of Suicidal Ideation. 61
28468557 2018
39
Autonomic Nervous System Pretransplant Malfunction Is a Powerful Predictor of Survival After Allogeneic Hematopoietic Cell Transplantation. 61
28505024 2017
40
Automatic segmentation of liver tumors from multiphase contrast-enhanced CT images based on FCNs. 61
28347562 2017
41
Temporal associations between affective instability and dysregulated eating behavior in bulimia nervosa. 61
28482293 2017
42
Towards ultrasound-guided adaptive radiotherapy for cervical cancer: Evaluation of Elekta's semiautomated uterine segmentation method on 3D ultrasound images. 61
28493295 2017
43
An adaptive Fuzzy C-means method utilizing neighboring information for breast tumor segmentation in ultrasound images. 61
28513858 2017
44
Assessing the mean strength and variations of the time-to-time fluctuations of resting-state brain activity. 61
27402343 2017
45
Gastroesophageal reflux is not associated with short-term variability of parasympathetic activity in children. 61
28235713 2017
46
A novel homozygous missense mutation in BHLHA9 causes mesoaxial synostotic syndactyly with phalangeal reduction in a Pakistani family. 61
29263794 2017
47
Automatic metastatic brain tumor segmentation for stereotactic radiosurgery applications. 61
27845915 2016
48
Momentary Desire for Sexual Intercourse and Momentary Emotional Intimacy Associated With Perceived Relationship Quality and Physical Intimacy in Heterosexual Emerging Adult Couples. 61
26606678 2016
49
Effect of welding fume on heart rate variability among workers with respirators in a shipyard. 61
27677526 2016
50
Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders. 61
27041388 2016

Variations for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

ClinVar genetic disease variations for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BHLHA9 NM_001164405.1(BHLHA9):c.211A>G (p.Asn71Asp) SNV Pathogenic 162065 rs672601337 GRCh37: 17:1174068-1174068
GRCh38: 17:1270774-1270774
2 BHLHA9 NM_001164405.1(BHLHA9):c.218G>C (p.Arg73Pro) SNV Pathogenic 162066 rs672601338 GRCh37: 17:1174075-1174075
GRCh38: 17:1270781-1270781
3 BHLHA9 NM_001164405.1(BHLHA9):c.224G>T (p.Arg75Leu) SNV Pathogenic 162067 rs672601339 GRCh37: 17:1174081-1174081
GRCh38: 17:1270787-1270787

UniProtKB/Swiss-Prot genetic disease variations for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction:

72
# Symbol AA change Variation ID SNP ID
1 BHLHA9 p.Asn71Asp VAR_073333 rs672601337
2 BHLHA9 p.Arg73Pro VAR_073334 rs672601338
3 BHLHA9 p.Arg75Leu VAR_073335 rs672601339

Expression for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

Search GEO for disease gene expression data for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction.

Pathways for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

GO Terms for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

Sources for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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